De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes.

Reddy, K S; Sulcova, V; Young, H; Blancato, J K; Haddad, B R

Reddy, K S; Sulcova, V; Young, H; Blancato, J K; Haddad, B R.

Affiliation

Reddy KS; Quest Diagnostics Incorporated, San Juan Capistrano, California 92690, USA. reddyk@questdiagnostics.com

Am J Med Genet ; 82(4): 318-21, 1999 Feb 12.

Article in En | MEDLINE | ID: mdl-10051165

Subject(s)

Chromosomes, Human, Pair 13/genetics; Karyotyping; Mosaicism; Trisomy; Adult; Chromosome Banding; Developmental Disabilities/genetics; Female; Genotype; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability/genetics; Phenotype

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Collection: 01-internacional Database: MEDLINE Main subject: Trisomy / Chromosomes, Human, Pair 13 / Karyotyping / Mosaicism Limits: Adult / Female / Humans Language: En Journal: Am J Med Genet Year: 1999 Document type: Article Affiliation country: United States Country of publication: United States

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